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CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

1996; Elsevier BV; Volume: 17; Issue: 11 Linguagem: Inglês

10.1016/s0167-5699(96)80904-2

1355-8242

Luigi D. Notarangelo, Manuel C. Peitsch, Tore G. Abrahamsen, Colette Bachelot, Pierre Bordigoni, Andrew J. Cant, Helen Chapel, M. Clementi, Sarah Deacock, Geneviève de Saint Basile, Marzia Duse, Teresa Español, Amos Etzioni, Anders Fasth, Alain Fischer, Silvia Giliani, Lina Andrea Gómez, Lennart Hammarström, Alison Jones, Maria Kanariou, Christine Kinnon, Timo Klemola, Richard A. Kroczek, Jacov Levy, N Matamoros, V. Monafò, Paolo Paolucci, Igor Reznick, Özden Sanal, Smith Rjh, R. A. Thompson, Pier‐Angelo Tovo, Anna Villa, Mauno Vihinen, Jaak M. Vossen, B.J.M. Zegers, Hans D. Ochs, Mary Ellen Conley, Motohiro Iseki, Narayanaswamy Ramesh, Mitsunobu Shimadzu, Osamu Saiki,

Glycosylation and Glycoproteins Research

X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.